GHRHR

Gene name: growth hormone releasing hormone receptor
OMIM ID: 139191
Chromosome location: 7p14.3

Mutations

Disease/Phenotype	Growth hormone deficiency, isolated, type IB
Reference transcript	NM_000823.3
DNA Change	c.57+2T>G
A.A. Change
Exon/Intron	intron 1
Mutation Type	substitution
Reference	Fritez N, Sobrier ML, Iraqi H, Vié-Luton MP, Netchine I, El Annas A, Pantel J, Collot N, Rose S, Piterboth W, Legendre M2, Chraibi A, Amselem S, Kadiri A, Hilal L.Molecular screening of a large cohort of Moroccan patients with congenital hypopituitarism. Clin Endocrinol (Oxf). 2015 Jun;82(6):876-84.

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Disease/Phenotype	Growth hormone deficiency, isolated, type IB
DNA Change	G>C
A.A. Change
Exon/Intron	intron 7
Mutation Type	substitution
Reference	Walenkamp MJ, Pereira AM, Oostdijk W, Stokvis-Brantsma WH, Pfaeffle RW, Blankenstein O, Wit JM.Height gain with combined growth hormone and gonadotropin-releasing hormone analog therapy in two pubertal siblings with a growth hormone-releasing hormone receptor mutation. J Clin Endocrinol Metab. 2008 Jan;93(1):204-7.

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Disease/Phenotype	Growth hormone deficiency, isolated, type IB
DNA Change	IVS1+2T>G
A.A. Change
Exon/Intron	intron 1
Mutation Type	substitution
Reference	Hilal L, Hajaji Y, Vie-Luton MP, Ajaltouni Z, Benazzouz B, Chana M, Chra?bi A, Kadiri A, Amselem S, Sobrier ML.Unusual phenotypic features in a patient with a novel splice mutation in the GHRHR gene. Mol Med. 2008 May-Jun;14(5-6):286-92.

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  Variant not named according to HGVS recommendations