X-linked mental retardation and severe short stature with a novel mutation of the
KDM5C gene
X-linked mental retardation
cerebellar hypoplasia
short stature
Journal
Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology
ISSN: 0918-5739
Titre abrégé: Clin Pediatr Endocrinol
Pays: Japan
ID NLM: 9433330
Informations de publication
Date de publication:
2021
2021
Historique:
received:
16
09
2020
accepted:
13
10
2020
entrez:
15
1
2021
pubmed:
16
1
2021
medline:
16
1
2021
Statut:
ppublish
Résumé
Many monogenetic disorders of short stature have autosomal recessive/dominant form of inheritance. However, X-linked short stature has not been well recognized. Herein, we report a case of a boy from a family with familial severe short stature and mental retardation, who displayed an X-linked recessive trait. The boy at the age of 4 yr and 6 mo presented with remarkable growth failure (height: 76.5 cm [-6.3 SD]) and mental retardation (IQ: 30) and cerebellar volume loss and without an external anomaly or microcephaly to our hospital. A careful interview to determine the family history suggested a genetic background of familial mental retardation and short stature. His mother had mild intellectual disability with normal stature and his maternal uncle had severe mental retardation with remarkably short stature. Whole-exome sequencing identified a pathogenic variant in the
Identifiants
pubmed: 33446955
doi: 10.1297/cpe.30.61
pii: 2020-0055
pmc: PMC7783125
doi:
Types de publication
Case Reports
Langues
eng
Pagination
61-64Informations de copyright
2021©The Japanese Society for Pediatric Endocrinology.
Déclaration de conflit d'intérêts
The authors declare no conflicts of interest in association with the present study.
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