TY - JOUR
T1 - Bain type of X-linked syndromic mental retardation in a male with a pathogenic variant in HNRNPH2
AU - Somashekar, Puneeth H.
AU - Narayanan, Dhanya L.
AU - Jagadeesh, Sujatha
AU - Suresh, Beena
AU - Vaishnavi, Reddy D.
AU - Bielas, Stephanie
AU - Girisha, Katta M.
AU - Shukla, Anju
N1 - Funding Information:
We thank patients and family members for their participation in the study. This study was supported by National Institutes of Health funded project, “Genetic diagnosis of heritable neurodevelopmental disorders in India: Investigating the use of whole‐exome sequencing and genetic counseling to address the high burden of neurodevelopmental disorders” (Grant Number: 1R21NS094047‐01).
Publisher Copyright:
© 2019 Wiley Periodicals, Inc.
PY - 2020/1/1
Y1 - 2020/1/1
N2 - Heterogeneous nuclear ribonucleoproteins (hnRNPs) are RNA binding proteins, which aid in maturation, stabilization, and transport of mRNA. They have a significant role in cellular nucleic acid metabolism. The hnRNPs alter gene expression and are linked to various neurodegenerative disorders and cancers. Previously, six unrelated girls with developmental delay, intellectual disability, and hypotonia were found to have de novo heterozygous pathogenic missense variants in HNRNPH2, located on the X chromosome. A gain-of-function effect was proposed for the variant and it was thought to be lethal in males as no surviving males were identified. We describe a family with two affected siblings, one male and one female, with a known pathogenic variant in HNRNPH2, possibly due to maternal germline mosaicism.
AB - Heterogeneous nuclear ribonucleoproteins (hnRNPs) are RNA binding proteins, which aid in maturation, stabilization, and transport of mRNA. They have a significant role in cellular nucleic acid metabolism. The hnRNPs alter gene expression and are linked to various neurodegenerative disorders and cancers. Previously, six unrelated girls with developmental delay, intellectual disability, and hypotonia were found to have de novo heterozygous pathogenic missense variants in HNRNPH2, located on the X chromosome. A gain-of-function effect was proposed for the variant and it was thought to be lethal in males as no surviving males were identified. We describe a family with two affected siblings, one male and one female, with a known pathogenic variant in HNRNPH2, possibly due to maternal germline mosaicism.
KW - HNRNPH2
KW - X-linked dominant
KW - developmental delay
KW - heterogeneous nuclear ribonucleoproteins
KW - hypotonia
KW - intellectual disability
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U2 - 10.1002/ajmg.a.61388
DO - 10.1002/ajmg.a.61388
M3 - Article
C2 - 31670473
AN - SCOPUS:85074761933
SN - 1552-4825
VL - 182
SP - 183
EP - 188
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 1
ER -
