Clinical characteristics.

DDX11-related cohesinopathy is characterized by the clinical triad of severe congenital microcephaly, growth restriction, and sensorineural hearing loss due to cochlear hypoplasia. Intellectual disability is typically in the mild-to-moderate range. Severe speech delay is common. Gross and fine motor milestones are often attained at the usual time, although a few individuals have mild motor delays. Additional common features include skeletal and cardiovascular anomalies. Abnormal skin pigmentation and genitourinary malformations have also been reported. Some individuals have increased chromosome breakage and radial forms on cytogenetic testing of lymphocytes treated with diepoxybutane and mitomycin C.

Diagnosis/testing.

The diagnosis of DDX11-related cohesinopathy is established in a proband with biallelic pathogenic variants in DDX11 identified by molecular genetic testing.

Management.

Treatment of manifestations: Supplementary formula and/or gastrostomy tube as needed to optimize nutrition. Treatments for hearing loss include hearing aids; cochlear implantation; auditory brain stem implant for individuals with profound hearing loss due to missing or nonfunctioning cochlea or auditory nerve; establishing a system of communication and hearing habilitation that may include sign language, auditory therapy, and speech therapy; and educational programs designed for individuals with hearing impairment. Early intervention and educational support; physical, occupational, and speech therapies; standard treatment for attention-deficit/hyperactivity disorder (ADHD); treatment of cardiac anomalies per cardiologist; treatment of limb anomalies per orthopedist with occupational therapy as needed; treatment of genitourinary anomalies per nephrologist and/or urologist.

Surveillance: Monitor growth, speech development, and educational needs with each visit; behavioral assessment for ADHD as needed; there is no consensus regarding tumor screening.

Genetic counseling.

DDX11-related cohesinopathy is inherited in an autosomal recessive manner. If both parents are known to be heterozygous for a DDX11 pathogenic variant, each sib of an affected individual has at conception a 25% chance of being affected, a 50% chance of being a carrier, and a 25% chance of being unaffected and not a carrier. Once the DDX11 pathogenic variants have been identified in an affected family member, carrier testing for at-risk relatives and prenatal/preimplantation genetic testing are possible.

Suggestive Findings

DDX11-related cohesinopathy should be suspected in individuals with a triad of characteristic findings:

• Congenital severe microcephaly
• Prenatal and postnatal growth restriction
• Congenital sensorineural hearing loss due to cochlear abnormalities (e.g., cochlear hypoplasia)

Additional clinical, imaging, and laboratory findings include the following.

Additional clinical findings

• Intellectual disability and developmental delay
• Skeletal anomalies (e.g., proximal insertion of the thumbs, shortening of the thumbs and the first metacarpals, clinodactyly of the fifth finger, and overlapping toes)
• Abnormal skin pigmentation (e.g., café au lait macules, cutis marmorata, hypo- or hyperpigmentation, livedo reticularis with telangiectasia)
• Congenital cardiovascular malformations (e.g., patent ductus arteriosus, atrial septal defect, ventricular septal defect, tetralogy of Fallot)
• Genitourinary malformations (e.g., hypoplastic scrotum, cryptorchidism, hypospadias, multicystic kidneys)

Imaging findings. Cochlear anomalies on temporal bone imaging (e.g., cochlear hypoplasia)

Laboratory findings

• Increased chromosome breakage and radial forms on cytogenetic testing of lymphocytes treated with diepoxybutane (DEB) and mitomycin C (MMC) in some affected individuals
  Note: The background rate of chromosome breakage in control chromosomes is more variable with MMC; thus, some centers prefer using DEB while other centers use both DEB and MMC.
• Premature chromatid separation (PCS) and premature centromere division (PCD) – separation of the sister chromatids and centromeres during metaphase rather than in anaphase visible on C-banding techniques (See Figure 1.)
• In many chromosomes, a "railroad track" appearance as a result of the absence of the primary constriction and presence of "puffing" or "repulsion" at the heterochromatic regions around the centromeres and nucleolar organizers

Figure 1.

C-banding of metaphase chromosomes in two individuals with DDX11-related cohesinopathy. Short arrows show chromosome morphology suggestive of premature centromere division (PCD); long arrows show chromosomes with premature chromatid separation (PCS). (more...)

Establishing the Diagnosis

The diagnosis of DDX11-related cohesinopathy is established in a proband with suggestive findings and biallelic pathogenic (or likely pathogenic) variants in DDX11 identified by molecular genetic testing (see Table 1).

Note: (1) Per ACMG/AMP variant interpretation guidelines, the terms "pathogenic variant" and "likely pathogenic variant" are synonymous in a clinical setting, meaning that both are considered diagnostic and can be used for clinical decision making [Richards et al 2015]. Reference to "pathogenic variants" in this GeneReview is understood to include likely pathogenic variants. (2) Identification of biallelic DDX11 variants of uncertain significance (or of one known DDX11 pathogenic variant and one DDX11 variant of uncertain significance) does not establish or rule out the diagnosis.

Molecular genetic testing approaches can include a combination of gene-targeted testing (single gene testing, multigene panel) and comprehensive genomic testing (exome sequencing, genome sequencing). Gene-targeted testing requires that the clinician determine which gene(s) are likely involved (see Option 1), whereas comprehensive genomic testing does not (see Option 2).

Clinical Description

DDX11-related cohesinopathy is characterized by a clinical triad of severe microcephaly, growth restriction, and hearing loss. Other anomalies have also been described. To date, 26 individuals have been identified with biallelic pathogenic variants in DDX11 [van der Lelij et al 2010, Capo-Chichi et al 2013, Bailey et al 2015, Eppley et al 2017, Alkhunaizi et al 2018, Bottega et al 2019, Cortone et al 2018, Rabin et al 2019, van Schie et al 2020, Arroyo-Carrera et al 2023, Kratochwila et al 2024]. The following description of the phenotypic features associated with this condition is based on these reports.

Microcephaly has a prenatal onset and is reported in all affected individuals. Congenital microcephaly can range from 3.3 to 10 standard deviations (SD) below the mean for age and sex. Postnatal head growth velocity is slower than average for age and sex. However, there are no reports of a substantial decrease in head growth velocity in childhood.

Prenatal and postnatal growth deficiency. All 26 reported individuals to date had intrauterine growth deficiency with birth weight and height below the third centile. Postnatal growth deficiency was also reported in all individuals; two individuals had weights between the 50th and 75th percentile later in childhood, after they were started on gastrostomy tube feedings [Bailey et al 2015, Alkhunaizi et al 2018].

Congenital sensorineural hearing loss is usually severe and is due to bilateral hypoplasia of the cochlea and the cochlear nerve. Children with DDX11-related cohesinopathy usually present early with a failed newborn hearing screen or severe speech disability that is comparable to the degree of sensorineural hearing loss. Expressive language is consistently affected due to the hearing loss; receptive language is also involved but to a lesser degree. Sign language can be learned; however, due to the intellectual disability, this is also limited in some individuals along with receptive language.

Intellectual disability and developmental delay range from mild to moderate and tend to be stable. Gross and fine motor milestones are usually attained at the usual time although a few individuals have mild delays.

Behavioral issues such as mild attention-deficit/hyperactivity disorder (ADHD) and/or aggression were reported in a couple of individuals [Bailey et al 2015, Alkhunaizi et al 2018, van Schie et al 2020]; however, affected children usually have good interpersonal skills.

Skeletal anomalies are commonly seen (16/23 individuals), including proximal insertion of thumbs, shortened first metacarpals, small radii, syndactyly, and short thumbs.

Additional structural brain abnormalities. In addition to cochlear hypoplasia, one individual presented with posterior labyrinthine anomaly with persistent lateral semicircular canal anlage [Alkhunaizi et al 2018]. Eight individuals presented with brain anomalies including focal poor sulcation pattern, delayed gyration, focal lissencephaly, corpus callosum hypoplasia, and cerebellar vermis hypoplasia [Alkhunaizi et al 2018, Rabin et al 2019, van Schie et al 2020, Kratochwila et al 2024].

Cardiovascular anomalies are reported in 33% (7/21 individuals). These include patent ductus arteriosus (1), small atrial septal defect with large patent ductus arteriosus (1), ventricular septal defect (4), and tetralogy of Fallot (1).

Other manifestations reported in single individuals (or sibs):

• Limb anomalies including fifth finger clinodactyly, brachydactyly, small fibula, talipes equinovarus, and overlapping toes
• Abnormal skin pigmentation including café au lait macules, cutis marmorata, hypo- or hyperpigmentation, and livedo reticularis with telangiectasia
• Genitourinary malformations including hypoplastic scrotum, cryptorchidism, hypospadias, and multicystic kidneys
• Other findings including early menarche in two sisters [Eppley et al 2017] and seizure disorder in one individual [Alkhunaizi et al 2018]

Malignancy. DDX11 is essential for genome maintenance and may act as a tumor suppressor [Parish et al 2006]. The possibility of an increased risk of malignancy in obligate heterozygotes (parents) was raised by van der Lelij et al [2010], who reported a family that included a mother of the proband with lymphoma and another heterozygous relative with endometrial adenocarcinoma. None of the five affected individuals nor their parents reported by Alkhunaizi et al [2018] had cancer. Moreover, the oldest individual known to date with DDX11-related cohesinopathy died at age 64 years with no evidence of cancer [van Schie et al 2020]. Therefore, the risk of malignancy in individuals with DDX11-related cohesinopathy or heterozygous individuals remains unproven.

Genotype-Phenotype Correlations

No clinically relevant genotype-phenotype correlations are known.

Nomenclature

"Warsaw breakage syndrome" refers to the city of origin of the first reported individual and the elevated level of chromosome breakage, similar to Fanconi anemia, reported in some affected individuals [van der Lelij et al 2010].

The observation of inconsistent increased levels of chromosome breakage in individuals with this disorder led to the suggestion to change the name of the condition to Warsaw syndrome [Alkhunaizi et al 2018].

The designation "DDX11-related cohesinopathy" is based on the dyadic naming approach proposed by Biesecker et al [2021] to delineate mendelian genetic disorders.

Prevalence

DDX11-related cohesinopathy is rare, with 26 individuals reported to date [van der Lelij et al 2010, Capo-Chichi et al 2013, Bailey et al 2015, Eppley et al 2017, Alkhunaizi et al 2018, Cortone et al 2018, Bottega et al 2019, Rabin et al 2019, van Schie et al 2020, Arroyo-Carrera et al 2023, Kratochwila et al 2024].

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with DDX11-related cohesinopathy, the evaluations summarized in Table 3 (if not performed as part of the evaluation that led to the diagnosis) are recommended.

Treatment of Manifestations

Supportive care to improve quality of life, maximize function, and reduce complications is recommended. This ideally involves multidisciplinary care by specialists in relevant fields (see Table 4).

Surveillance

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in Table 5 are recommended.

Evaluation of Relatives at Risk

See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.

Therapies Under Investigation

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Mode of Inheritance

DDX11-related cohesinopathy is inherited in an autosomal recessive manner.

Risk to Family Members

Parents of a proband

• The parents of an affected child are presumed to be heterozygous for a DDX11 pathogenic variant.
• Molecular genetic testing is recommended for the parents of a proband to confirm that both parents are heterozygous for a DDX11 pathogenic variant and to allow reliable recurrence risk assessment.
• If a pathogenic variant is detected in only one parent and parental identity testing has confirmed biological maternity and paternity, it is possible that one of the pathogenic variants identified in the proband occurred as a de novo event in the proband or as a postzygotic de novo event in a mosaic parent [Jónsson et al 2017]. If the proband appears to have homozygous pathogenic variants (i.e., the same two pathogenic variants), additional possibilities to consider include:
  • A single- or multiexon deletion in the proband that was not detected by sequence analysis and that resulted in the artifactual appearance of homozygosity;
  • Uniparental isodisomy for the parental chromosome with the pathogenic variant that resulted in homozygosity for the pathogenic variant in the proband.
• Heterozygotes (carriers) are not at risk of developing DDX11-related cohesinopathy. The possibility of an increased risk of malignancy in heterozygotes (parents/sibs of a proband) was raised by van der Lelij et al [2010]; however, the risk of malignancy in heterozygous individuals remains unproven (see Clinical Description, Malignancy).

Sibs of a proband

• If both parents are known to be heterozygous for a DDX11 pathogenic variant, each sib of an affected individual has at conception a 25% chance of being affected, a 50% chance of being a carrier, and a 25% chance of being unaffected and not a carrier.
• Heterozygotes (carriers) are not at risk of developing DDX11-related cohesinopathy. The possibility of an increased risk of malignancy in heterozygotes (parents/sibs of a proband) was raised by van der Lelij et al [2010]; however, the risk of malignancy in heterozygous individuals remains unproven (see Clinical Description, Malignancy).

Offspring of a proband. Unless the reproductive partner of an affected individual also has DDX11-related cohesinopathy or is a carrier, offspring will be obligate heterozygotes (carriers) for a pathogenic variant in DDX11.

Other family members. Each sib of the proband's parents is at a 50% risk of being a carrier of a DDX11 pathogenic variant.

Carrier Detection

Carrier testing for at-risk relatives requires prior identification of the DDX11 pathogenic variants in the family.

Related Genetic Counseling Issues

Family planning

• The optimal time for determination of genetic risk and discussion of the availability of prenatal/preimplantation genetic testing is before pregnancy.
• It is appropriate to offer genetic counseling (including discussion of potential risks to offspring and reproductive options) to the parents of affected children and young adults who are carriers or are at risk of being carriers.
• Carrier testing should be considered for the reproductive partners of known carriers and for the reproductive partners of individuals affected with DDX11-related cohesinopathy, particularly if both partners are of the same ancestry. Founder variants have been identified in several populations (see Table 6).

Prenatal Testing and Preimplantation Genetic Testing

Molecular genetic testing. Once the DDX11 pathogenic variants have been identified in an affected family member, prenatal and preimplantation genetic testing are possible.

Fetal imaging. Prenatal ultrasound findings in DDX11-related cohesinopathy may include intrauterine growth deficiency, microcephaly, delayed sulcation, short corpus callosum, and cerebellar vermis hypoplasia [Alkhunaizi et al 2018, Kratochwila et al 2024].

Differences in perspective may exist among medical professionals and within families regarding the use of prenatal and preimplantation genetic testing. While most health care professionals would consider use of prenatal and preimplantation genetic testing to be a personal decision, discussion of these issues may be helpful.

Molecular Pathogenesis

DDX11 encodes ATP-dependent DNA helicase DDX11 (DDX11), which belongs to a family of human DNA helicases (XPD, FANCJ, RTEL1) implicated in genome maintenance and that may act as tumor suppressors [Parish et al 2006]. These helicases are crucial for DNA replication, repair, and sister chromatid cohesion. DDX11 is specifically involved in establishing sister chromatid cohesion during mitosis by promoting proper loading of the cohesin complex onto DNA [Parish et al 2006, Bharti et al 2014].

DDX11 is a superfamily 2 DNA helicase belonging to the iron-sulfur (Fe-S) cluster family of DNA helicase proteins [Hirota & Lahti 2000, Parish et al 2006]. Human Fe-S helicase family genes are implicated in genetic disorders including:

• DDX11. DDX11-related cohesinopathy
• ERCC2. Xeroderma pigmentosum (XP) group D, cerebrooculofacioskeletal syndrome 2, or trichothiodystrophy
• RTEL1. Dyskeratosis congenita or Hoyeraal-Hreidarsson syndrome
• BRIP1. Fanconi anemia complementation group J

DDX11 is an ATP-dependent DNA helicase [Hirota & Lahti 2000, Inoue et al 2007, Bharti et al 2014], which unwinds duplex DNA with a 5'-3' directionality and is essential for the correct assembly of cohesin onto DNA during mitosis [Parish et al 2006]. The DNA-unwinding activity of DDX11 is essential to its in vivo function. All analyzed DDX11 missense pathogenic variants whose amino acid substitutions are within the catalytic ATPase/helicase domain are either completely or near-completely devoid of helicase activity or are highly unstable in human cells [van der Lelij et al 2010, Capo-Chichi et al 2013, Alkhunaizi et al 2018]. Without this function, proper chromosomal cohesion is compromised, leading to chromosomal breakage and genome instability, the hallmark features underlying DDX11-related cohesinopathy syndrome. This syndrome is part of the broader group of cohesinopathies, which includes Cornelia de Lange and Roberts syndromes.

Mechanism of disease causation. Loss of function

Gene-specific laboratory considerations. Analysis of DDX11 is complicated by the presence of at least 16 highly homologous pseudogenes (e.g., DDX11L1, DDX11L2).

Author History

Ebba Alkhunaizi, MD (2019-present)
Fowzan S Alkuraya, MD; Alfaisal University (2019-2025)
Robert M Brosh, Jr, PhD (2019-present)
David Chitayat, MD (2019-present)

Revision History

• 5 June 2025 (sw) Comprehensive update posted live
• 6 June 2019 (sw) Review posted live
• 20 November 2018 (ea, dc) Original submission

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