Two siblings with a novel nonsense variant provide further delineation of the spectrum of recessive KLHL7 diseases.
Eur J Med Genet
; 62(9): 103551, 2019 Sep.
Article
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| MEDLINE
| ID: mdl-30300710
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.
Palabras clave
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Fenotipo
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Autoantígenos
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Discapacidades del Desarrollo
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Codón sin Sentido
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Anomalías Craneofaciales
Límite:
Child, preschool
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Female
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Humans
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Infant
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Male
Idioma:
En
Revista:
Eur J Med Genet
Asunto de la revista:
GENETICA MEDICA
Año:
2019
Tipo del documento:
Article
País de afiliación:
Estados Unidos