Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa.

doi:10.1016/j.ajhg.2016.05.026

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Article

Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa.

American journal of human genetics - 7 Jul 2016

Angius Andrea, Uva Paolo, Buers Insa, Oppo Manuela, Puddu Alessandro, Onano Stefano, Persico Ivana, Loi Angela, Marcia Loredana, Höhne Wolfgang, Cuccuru Gianmauro, Fotia Giorgio, Deiana Manila, Marongiu Mara, Atalay Hatice Tuba, Inan Sibel, El Assy Osama, Smit Leo M E, Okur Ilyas, Boduroglu Koray, Utine Gülen Eda, Kılıç Esra, Zampino Giuseppe, Crisponi Giangiorgio, Crisponi Laura, Rutsch Frank

Abstract excerpt

Crisponi syndrome (CS)/cold-induced sweating syndrome type 1 (CISS1) is a very rare autosomal-recessive disorder characterized by a complex phenotype with high neonatal lethality, associated with the following main clinical features: hyperthermia and feeding difficulties in the neonatal period, scoliosis, and paradoxical sweating induced by cold since early childhood. CS/CISS1 can be caused by mutations in...

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Identifiers

PMID: 27392078
DOI: 10.1016/j.ajhg.2016.05.026
PMCID: PMC5005468

Genes

KLHL7
CRLF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa.PMID 27392078Read ↗

Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndrome.Semantic proximity Read ↗

Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype.Semantic proximity Read ↗

Bi-allelic c.181_183delTGT in BTB domain of KLHL7 is associated with overlapping phenotypes of Crisponi/CISS1-like and Bohring-Opitz like syndrome.Semantic proximity Read ↗

Crisponi/CISS1 syndrome: A case series.Semantic proximity Read ↗

A novel PTC mutation in the BTB domain of KLHL7 gene in two patients with Bohring-Opitz syndrome-like features.Semantic proximity Read ↗

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Novel mutations in the 3-box motif of the BACK domain of KLHL7 associated with nonsyndromic autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1.Semantic proximity Read ↗

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Cold-induced sweating syndrome type 1, with a CRLF1 level mutation, previously associated with Crisponi syndrome.Semantic proximity Read ↗

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