PERCHING syndrome: Clinical presentation in the first African patient confirmed by clinical whole genome sequencing.
Central Africa
Dysmorphism
KLHL7
PERCHING syndrome
WGS
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
09 2022
09 2022
Historique:
revised:
17
04
2022
received:
20
12
2021
accepted:
12
05
2022
pubmed:
8
6
2022
medline:
17
8
2022
entrez:
7
6
2022
Statut:
ppublish
Résumé
PERCHING syndrome is a rare multisystem developmental disorder caused by autosomal recessive (AR) variants (truncating and missense) in the Kelch-like family member 7 gene (KLHL7). We report the first phenotypic and molecular description of PERCHING syndrome in a patient from Central Africa. The patient presented multiple dysmorphic features in addition to neurological, respiratory, gastroenteric, and dysautonomic disorders. Clinical Whole Genome Sequencing in the proband and his mother identified two novel heterozygous variants in the KLHL7 gene, including a maternally inherited intronic variant (NM_001031710.2:c.793 + 5G > C) classified as Variant of Uncertain Significance and a frameshift stop gain variant (NM_001031710.2:c.944delG; p.Ser315ThrfsTer23) of unknown inheritance classified as likely pathogenic. Although the diagnosis was only evoked after genomic testing, the review of published patients suggests that this disease could be clinically recognizable and maybe considered as an encephalopathy. Our report will allow expanding the phenotypic and molecular spectrum of Perching syndrome.
Identifiants
pubmed: 35670385
doi: 10.1002/ajmg.a.62855
doi:
Substances chimiques
Codon, Nonsense
0
Types de publication
Case Reports
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
2825-2831Informations de copyright
© 2022 Wiley Periodicals LLC.
Références
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