Universität zu Köln

Angius, Andrea ORCID: 0000-0003-2596-6461, Uva, Paolo ORCID: 0000-0002-9524-8492, Buers, Insa, Oppo, Manuela, Puddu, Alessandro, Onano, Stefano, Persico, Ivana ORCID: 0000-0001-9946-1509, Loi, Angela, Marcia, Loredana, Hoehne, Wolfgang, Cuccuru, Gianmauro, Fotia, Giorgio, Deiana, Manila, Marongiu, Mara ORCID: 0000-0002-7321-2384, Atalay, Hatice Tuba ORCID: 0000-0002-1847-615X, Inan, Sibel, El Assy, Osama, Smit, Leo M. E., Okur, Ilyas, Boduroglu, Koray ORCID: 0000-0001-6260-1942, Utine, Gulen Eda, Kilic, Esra, Zampino, Giuseppe, Crisponi, Giangiorgio, Crisponi, Laura ORCID: 0000-0001-9128-8537 and Rutsch, Frank (2016). Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa. Am. J. Hum. Genet., 99 (1). S. 236 - 246. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

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Abstract

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 cytokine receptor-like factor 1 (CRLF1). However, the physiopathological role of CRLF1 is still poorly understood. A subset of CS/CISS1 cases remain yet genetically unexplained after CRLF1 sequencing. In five of them, exome sequencing and targeted Sanger sequencing identified four homozygous disease-causing mutations in kelch-like family member 7 (KLHL7), affecting the Kelch domains of the protein. KLHL7 encodes a BTB-Kelch-related protein involved in the ubiquitination of target proteins for proteasome-mediated degradation. Mono-allelic substitutions in other domains of KLHL7 have been reported in three families affected by a late-onset form of autosomal-dominant retinitis pigmentosa. Retinitis pigmentosa was also present in two surviving children reported here carrying bi-allelic KLHL7 mutations. KLHL7 mutations are thus associated with a more severe phenotype in recessive than in dominant cases. Although these data further support the pathogenic role of KLHL7 mutations in a CS/CISS1-like phenotype, they do not explain all their clinical manifestations and highlight the high phenotypic heterogeneity associated with mutations in KLHL7.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Angius, Andrea UNSPECIFIED orcid.org/0000-0003-2596-6461 UNSPECIFIED Uva, Paolo UNSPECIFIED orcid.org/0000-0002-9524-8492 UNSPECIFIED Buers, Insa UNSPECIFIED UNSPECIFIED UNSPECIFIED Oppo, Manuela UNSPECIFIED UNSPECIFIED UNSPECIFIED Puddu, Alessandro UNSPECIFIED UNSPECIFIED UNSPECIFIED Onano, Stefano UNSPECIFIED UNSPECIFIED UNSPECIFIED Persico, Ivana UNSPECIFIED orcid.org/0000-0001-9946-1509 UNSPECIFIED Loi, Angela UNSPECIFIED UNSPECIFIED UNSPECIFIED Marcia, Loredana UNSPECIFIED UNSPECIFIED UNSPECIFIED Hoehne, Wolfgang UNSPECIFIED UNSPECIFIED UNSPECIFIED Cuccuru, Gianmauro UNSPECIFIED UNSPECIFIED UNSPECIFIED Fotia, Giorgio UNSPECIFIED UNSPECIFIED UNSPECIFIED Deiana, Manila UNSPECIFIED UNSPECIFIED UNSPECIFIED Marongiu, Mara UNSPECIFIED orcid.org/0000-0002-7321-2384 UNSPECIFIED Atalay, Hatice Tuba UNSPECIFIED orcid.org/0000-0002-1847-615X UNSPECIFIED Inan, Sibel UNSPECIFIED UNSPECIFIED UNSPECIFIED El Assy, Osama UNSPECIFIED UNSPECIFIED UNSPECIFIED Smit, Leo M. E. UNSPECIFIED UNSPECIFIED UNSPECIFIED Okur, Ilyas UNSPECIFIED UNSPECIFIED UNSPECIFIED Boduroglu, Koray UNSPECIFIED orcid.org/0000-0001-6260-1942 UNSPECIFIED Utine, Gulen Eda UNSPECIFIED UNSPECIFIED UNSPECIFIED Kilic, Esra UNSPECIFIED UNSPECIFIED UNSPECIFIED Zampino, Giuseppe UNSPECIFIED UNSPECIFIED UNSPECIFIED Crisponi, Giangiorgio UNSPECIFIED UNSPECIFIED UNSPECIFIED Crisponi, Laura UNSPECIFIED orcid.org/0000-0001-9128-8537 UNSPECIFIED Rutsch, Frank UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-270060
DOI:	10.1016/j.ajhg.2016.05.026
Journal or Publication Title:	Am. J. Hum. Genet.
Volume:	99
Number:	1
Page Range:	S. 236 - 246
Date:	2016
Publisher:	CELL PRESS
Place of Publication:	CAMBRIDGE
ISSN:	1537-6605
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language BTB-KELCH PROTEIN; FRAMEWORK; CRLF1; DIFFERENTIATION; CRISPONI; FACTOR-1 Multiple languages Genetics & Heredity Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/27006