Format

Send to

Choose Destination
Eur J Hum Genet. 2019 Sep 3. doi: 10.1038/s41431-019-0490-6. [Epub ahead of print]

School level of children carrying a HNF1B variant or a deletion.

Author information

1
Service de Pédiatrie, CHU de Limoges, Limoges, France. lalieve.fanny@gmail.com.
2
Service de Néphrologie Pédiatrique, CHU de Toulouse, Toulouse, France.
3
Service de Néphrologie Pédiatrique, Hôpital Necker, APHP, Paris, France.
4
Service de Néphrologie Pédiatrique, Hôpital Robert Debré, APHP, Paris, France.
5
Service de Néphrologie Pédiatrique, CHU Jeanne de Flandres, Lille, France.
6
Service de Néphrologie Pédiatrique, CHU de Bordeaux, Bordeaux, France.
7
Service de Néphrologie Pédiatrique, Hôpital Femme Mère Enfant, Lyon, France.
8
Service de Néphrologie Pédiatrique, CHU de Montpellier, Montpellier, France.
9
Service de Néphrologie Pédiatrique, CHU de Saint-Etienne, Saint-Etienne, France.
10
Service de Néphrologie Pédiatrique, CHU de Caen, Caen, France.
11
Service de Néphrologie Pédiatrique, CHU de Rouen, Rouen, France.
12
Service de Néphrologie Pédiatrique, CHU de Nantes, Nantes, France.
13
Service de Néphrologie Pédiatrique, CHU de Tours, Tours, France.
14
Service de Néphrologie Pédiatrique, CHU de Nancy, Nancy, France.
15
Service de Néphrologie Pédiatrique, CHU de la Réunion, Saint-Denis, France.
16
Service de Néphrologie Pédiatrique, CHU de Clermont, Clermont-Ferrand, France.
17
Service de Néphrologie Pédiatrique, CHU de Marseille, Marseille, France.
18
Service de Néphrologie Pédiatrique, CHU de Besançon, Besançon, France.
19
Service de Néphrologie Pédiatrique, CHU de Reims, Reims, France.
20
Service de Pédiatrie, CHU de Brest, Brest, France.
21
Service de Pédiatrie, CH de Chollet, Chollet, France.
22
CIC 1435, CHU de Limoges, Limoges, France.
23
Département de génétique, Assistance Publique-Hôpitaux de Paris (AP-HP) Hôpitaux Universitaires Pitié Salpêtrière-Charles Foix, Sorbonne Université, Paris, France.
24
CHU Toulouse, Service de Génétique Médicale, Hôpital Purpan, Toulouse, France.
25
Service de Biochimie Biologie Moléculaire Grand Est; UM Pathologies Endocriniennes, Rénales, Musculaires et Mucoviscidose; LBMMS, Hospices Civils de Lyon, Bron, France.
26
Service de Génétique, Hôpital Necker, APHP, Paris, France.
27
Service de Pédiatrie, CHU de Limoges, Limoges, France.
28
Service de Pédiatrie, CHU de Limoges, Limoges, France. vincent.guigonis@unilim.fr.
29
CIC 1435, CHU de Limoges, Limoges, France. vincent.guigonis@unilim.fr.
30
UMR CNRS 7276, Limoges, France. vincent.guigonis@unilim.fr.

Abstract

The prevalence of neurological involvement in patients with a deletion of or a variant in the HNF1B gene remains discussed. The aim of this study was to investigate the neuropsychological outcomes in a large cohort of children carrying either a HNF1B whole-gene deletion or a disease-associated variant, revealed by the presence of kidney anomalies. The neuropsychological development-based on school level-of 223 children included in this prospective cohort was studied. Data from 180 children were available for analysis. Patients mean age was 9.6 years, with 39.9% of girls. Among these patients, 119 carried a HNF1B deletion and 61 a disease-associated variant. In the school-aged population, 12.7 and 3.6% of patients carrying a HNF1B deletion and a disease-associated variant had special educational needs, respectively. Therefore, the presence of a HNF1B deletion increases the risk to present with a neuropsychiatric involvement when compared with the general population. On the other hand, almost 90% of patients carrying a HNF1B disease-associated variant or deletion have a normal schooling in a general educational environment. Even if these findings do not predict the risk of neuropsychiatric disease at adulthood, most patients diagnosed secondary to kidney anomalies do not show a neurological outcome severe enough to impede standard schooling at elementary school. These results should be taken into account in prenatal counseling.

PMID:
31481685
DOI:
10.1038/s41431-019-0490-6

Supplemental Content

Full text links

Icon for Nature Publishing Group
Loading ...
Support Center