Growth Hormone insensitivity (Laron syndrome): Report of a new family and review of Brazilian patients
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Citações na Scopus
5
Tipo de produção
article
Data de publicação
2019
Título da Revista
ISSN da Revista
Título do Volume
Editora
SOC BRASIL GENETICA
Autores
VILLELA, Thais R.
BRAGA, Nathalia T. P.
ARANTES, Rodrigo R.
SILVA, Ivani N.
Citação
GENETICS AND MOLECULAR BIOLOGY, v.42, n.4, article ID UNSP e20180197, 6p, 2019
Resumo
Laron's syndrome (LS) is a rare genetic disorder characterized by insensitivity to growth hormone (GH). Up to the present time, over 70 mutations of GH receptor (GHR) gene have been identified leading to GH/insulin-like growth factor type 1 (IGF1) signaling pathway defect. The number of LS patients worldwide is unknown, as many are probably undiagnosed. We report two sibs from a consanguineous family from Minas Gerais, southeastern Brazil. The parents have three children. The older, a 4-years-old girl was 80.2 cm tall (-5.7 SDS height/age), and the youngest sister, aged 3 years, was 73.2 cm tall (-5.82 SDS height/age). Their clinical and biochemical features are typical of LS patients, such as high serum level of GH and low IGF1 concentrations. A homozygous c.1A>T nucleotide substitution in GHR exon 2 in the probands' samples was identified. Their parents and healthy sister are heterozygous for the same variant that abolishes the translation initiation codon of GHR. This mutation has not been reported in Brazilian patients and was previously associated with an LS phenotype in a single 29-year-old Spanish man. In addition to this case report, we summarize the main characteristics and molecular data of the 21 LS Brazilian patients who have been published to date.
Palavras-chave
Laron Syndrome, growth hormone, growth hormone receptor, genetics
Referências
- BERG MA, 1993, AM J HUM GENET, V52, P998
- Campbell R, 2009, CLEFT PALATE-CRAN J, V46, P409, DOI 10.1597/08-111.1
- David A, 2011, ENDOCR REV, V32, P472, DOI 10.1210/er.2010-0023
- Jorge AAD, 2008, ARQ BRAS ENDOCRINOL, V52, P1056, DOI 10.1590/S0004-27302008000600018
- Diniz ET, 2008, ARQ BRAS ENDOCRINOL, V52, P1264, DOI 10.1590/S0004-27302008000800010
- Fang P, 2007, J CLIN ENDOCR METAB, V92, P2223, DOI 10.1210/jc.2006-2624
- GODOWSKI PJ, 1989, P NATL ACAD SCI USA, V86, P8083, DOI 10.1073/pnas.86.20.8083
- Goncalves FT, 2014, AM J MED GENET A, V164, P1204, DOI 10.1002/ajmg.a.36444
- Jorge AAL, 2004, CLIN ENDOCRINOL, V60, P36, DOI 10.1111/j.1365-2265.2004.01930.x
- Jorge Alexander A. de Lima, 2005, Arq Bras Endocrinol Metab, V49, P384, DOI 10.1590/S0004-27302005000300009
- LARON Z, 1968, ISRAEL J MED SCI, V4, P883
- LARON Z, 1966, ISRAEL J MED SCI, V2, P152
- Laron Z, 2004, J CLIN ENDOCR METAB, V89, P1031, DOI 10.1210/jc.2003-031033
- Laron Z, 2016, GROWTH HORM IGF RES, V28, P53, DOI 10.1016/j.ghir.2015.08.004
- Laron Z, 2016, GROWTH HORM IGF RES, V28, P79, DOI 10.1016/j.ghir.2015.07.007
- Laron Z, 2012, GROWTH HORM IGF RES, V22, P49, DOI 10.1016/j.ghir.2012.02.005
- Pugliese-Pires PN, 2010, EUR J ENDOCRINOL, V163, P349, DOI 10.1530/EJE-10-0272
- Quinteiro C, 2002, J PEDIATR ENDOCR MET, V15, P1041
- Richards S, 2015, GENET MED, V17, P405, DOI 10.1038/gim.2015.30
- SALDANHA PH, 1981, HUM GENET, V59, P367, DOI 10.1007/BF00295474
- Scalco RC, 2017, GENET MOL BIOL, V40, P436, DOI [10.1590/1678-4685-GMB-2016-0231, 10.1590/1678-4685-gmb-2016-0231]