TY - JOUR
T1 - Biallelic ZNF407 mutations in a neurodevelopmental disorder with ID, short stature and variable microcephaly, hypotonia, ocular anomalies and facial dysmorphism
AU - Zahra, Qandeel
AU - Çakmak, Çağla
AU - Koprulu, Mine
AU - Shuaib, Muhammad
AU - Sobreira, Nara
AU - Kalsner, Louisa
AU - Sobreira, Joselito
AU - Guillen Sacoto, Maria J.
AU - Malik, Sajid
AU - Tolun, Aslıhan
N1 - Funding Information:
Acknowledgements We thank the participants for their cooperation and Dr. Michelle Morrow for critical reading of the paper. This study was supported by the Scientific and Technological Research Council of Turkey (114Z829 to AT) and URF-QAU Pakistan (2014–2015 to SM).
Publisher Copyright:
© 2020, The Author(s), under exclusive licence to The Japan Society of Human Genetics.
PY - 2020/12/1
Y1 - 2020/12/1
N2 - We describe five members of a consanguineous Pakistani family (Family I) plus two affected children from families of different ethnic origins presenting with neurodevelopmental disorders with overlapping features. All affected individuals from families have intellectual disability (ID), ranging from mild to profound, and reduced motor and cognitive skills plus variable features including short stature, microcephaly, developmental delay, hypotonia, dysarthria, deafness, visual problems, enuresis, encopresis, behavioural anomalies, delayed pubertal onset and facial dysmorphism. We first mapped the disease locus in the large family (Family I), and by exome sequencing identified homozygous ZNF407 c.2814_2816dup (p.Val939dup) in four affected members where DNA samples were available. By exome sequencing we detected homozygous c.2405G>T (p.Gly802Val) in the affected member of Family II and compound heterozygous variants c.2884C>G (p.Arg962Gly) and c.3642G>C (p.Lys1214Asn) in the affected member of Family III. Homozygous c.5054C>G (p.Ser1685Trp) has been reported in two brothers with an ID syndrome. Affected individuals we present did not exhibit synophrys, midface hypoplasia, kyphosis, 5th finger camptodactyly, short 4th metatarsals or limited knee mobility observed in the reported family.
AB - We describe five members of a consanguineous Pakistani family (Family I) plus two affected children from families of different ethnic origins presenting with neurodevelopmental disorders with overlapping features. All affected individuals from families have intellectual disability (ID), ranging from mild to profound, and reduced motor and cognitive skills plus variable features including short stature, microcephaly, developmental delay, hypotonia, dysarthria, deafness, visual problems, enuresis, encopresis, behavioural anomalies, delayed pubertal onset and facial dysmorphism. We first mapped the disease locus in the large family (Family I), and by exome sequencing identified homozygous ZNF407 c.2814_2816dup (p.Val939dup) in four affected members where DNA samples were available. By exome sequencing we detected homozygous c.2405G>T (p.Gly802Val) in the affected member of Family II and compound heterozygous variants c.2884C>G (p.Arg962Gly) and c.3642G>C (p.Lys1214Asn) in the affected member of Family III. Homozygous c.5054C>G (p.Ser1685Trp) has been reported in two brothers with an ID syndrome. Affected individuals we present did not exhibit synophrys, midface hypoplasia, kyphosis, 5th finger camptodactyly, short 4th metatarsals or limited knee mobility observed in the reported family.
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U2 - 10.1038/s10038-020-0812-0
DO - 10.1038/s10038-020-0812-0
M3 - Article
C2 - 32737394
AN - SCOPUS:85088828392
SN - 1434-5161
VL - 65
SP - 1115
EP - 1123
JO - Journal of Human Genetics
JF - Journal of Human Genetics
IS - 12
ER -