NM_000115.4(EDNRB):c.601C>T (p.Arg201Ter) AND ABCD syndrome

Clinical significance:Pathogenic (Last evaluated: Mar 15, 2002)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:

Allele description [Variation Report for NM_000115.4(EDNRB):c.601C>T (p.Arg201Ter)]

NM_000115.4(EDNRB):c.601C>T (p.Arg201Ter)

EDNRB-AS1:EDNRB antisense RNA 1 [Gene - HGNC]
EDNRB:endothelin receptor type B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_000115.4(EDNRB):c.601C>T (p.Arg201Ter)
  • NC_000013.11:g.77903356G>A
  • NG_011630.2:g.77174C>T
  • NM_000115.4:c.601C>T
  • NP_000106.1:p.Arg201Ter
  • NC_000013.10:g.78477491G>A
  • NM_000115.3:c.601C>T
Protein change:
R201*; ARG201TER
OMIM: 131244.0008; dbSNP: rs104894391
NCBI 1000 Genomes Browser:
Allele Frequency:
0.00001(A), GO-ESP
Molecular consequence:
  • NM_000115.4:c.601C>T - nonsense - [Sequence Ontology: SO:0001587]


ABCD syndrome (ABCDS)
MedGen: C1838099; OMIM: 600501

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV000038399OMIMno assertion criteria providedPathogenic
(Mar 15, 2002)
germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only



Autosomal-recessive neural crest syndrome with albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness: ABCD syndrome.

Gross A, Kunze J, Maier RF, Stoltenburg-Didinger G, Grimmer I, Obladen M.

Am J Med Genet. 1995 Apr 10;56(3):322-6.

PubMed [citation]

ABCD syndrome is caused by a homozygous mutation in the EDNRB gene.

Verheij JB, Kunze J, Osinga J, van Essen AJ, Hofstra RM.

Am J Med Genet. 2002 Mar 15;108(3):223-5.

PubMed [citation]

Details of each submission

From OMIM, SCV000038399.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)


In the fifth child affected with ABCD syndrome (600501) in a consanguineous Kurdish family, previously described by Gross et al. (1995), Verheij et al. (2002) identified a homozygous C-to-T transition in the EDNRB gene, resulting in the substitution of a stop codon for an arginine residue in exon 3 (R201X). The affected female infant presented with bilateral deafness, albinism, a black lock at the right temporooccipital region, and spots of retinal depigmentation. She also had a severe defect of intestinal innervation from which she died at 5 weeks of age. Verheij et al. (2002) suggested that ABCD syndrome is not a separate entity, but an expression of Shah-Waardenburg syndrome (277580).

OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 21, 2018