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Two siblings with a novel nonsense variant provide further delineation of the spectrum of recessive KLHL7 diseases.

Abstract：

:Mutations in Kelch-like family member 7 (KLHL7) have recently been described as a cause of a constellation of clinical findings with descriptions of both a Crisponi syndrome (CS)/cold-induced sweating syndrome type 1 (CISS1)-like, as well as a Bohring-Opitz syndrome (BOS)-like presentation. Here we report two siblings of Guatelmalan descent with a novel homozygous nonsense mutation (p.Arg326*) in KLHL7. These children have multiple dysmorphic features and developmental delay. Interestingly, their clinical traits inconsistently overlap both the CS/CISS1-like and BOS-like phenotypes, and the siblings also have subtle differences from each other, suggesting that clinicians need to be aware of the degree of variability in the presentations of these patients. Still, there is enough in common between patients with recessive KLHL7 mutations to define a novel multisystem disease that features various neurodevelopmental, musculoskeletal, dysmorphic, and other unique components. This report adds to the clinical features and disease-associated variants of the newly-recognized spectrum of KLHL7 mutations, and offers a new description, PERCHING, for the resulting syndrome.

journal_name

Eur J Med Genet

journal_title

European journal of medical genetics

authors

Jeffries L,Olivieri JE,Ji W,Spencer-Manzon M,Bale A,Konstantino M,Lakhani SA

doi

10.1016/j.ejmg.2018.10.003

subject

Has Abstract

pub_date

2019-09-01 00:00:00

pages

103551

issue

9

eissn

1769-7212

issn

1878-0849

pii

S1769-7212(18)30080-6

journal_volume

62

pub_type

杂志文章

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