scholarly journals X-linked mental retardation and severe short stature with a novel mutation of the KDM5C gene

2021 ◽  
Vol 30 (1) ◽  
pp. 61-64
Author(s):  
Fumika Kawano-Matsuda ◽  
Tomoki Maeda ◽  
Tadashi Kaname ◽  
Kumiko Yanagi ◽  
Kenji Ihara
Keyword(s):  
Mental Retardation ◽  
Short Stature ◽  
Novel Mutation ◽  
Severe Short Stature ◽  
I Gene

Growth Hormone Insensitivity and Severe Short Stature in Siblings: A Novel Mutation at the Exon 13-Intron 13 Junction of the STAT5b Gene

2007 ◽  
Vol 68 (5) ◽  
pp. 218-224 ◽  
Author(s):  
Vivian Hwa ◽  
Cecilia Camacho-Hübner ◽  
Brian M. Little ◽  
Alessia David ◽  
Lou A. Metherell ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Short Stature ◽  
Novel Mutation ◽  
Growth Hormone Insensitivity ◽  
Severe Short Stature ◽  
I Gene

A case report and literature review of monoallelic mutation of GHR

2019 ◽  
Vol 32 (4) ◽  
pp. 415-419
Author(s):  
Marie Mitani ◽  
Hirohito Shima ◽  
Takeshi Sato ◽  
Tomohiro Inoguchi ◽  
Tsutomu Kamimaki ◽  
...  
Keyword(s):  
Short Stature ◽  
Novel Mutation ◽  
Serum Insulin ◽  
The Novel ◽  
Gh Secretion ◽  
Old Japanese ◽  
Missense Variation ◽  
Normal Stature ◽  
Monoallelic Mutation ◽  
Severe Short Stature

Abstract Background Monoallelic mutations of GHR have been described in idiopathic short stature (ISS), although the significance of these remain unclear. We report a case of ISS with novel monoallelic S219L mutation of GHR and discuss the possible significance of monoallelic GHR mutation in ISS. Case presentation The proband, a 13.9-year-old Japanese boy, had severe short stature (−3.8 standard deviation [SD]). Serum insulin-like growth factor (IGF)-I level and growth hormone (GH) secretion was normal. His parents were nonconsanguineous and had normal stature. Genetic analyses revealed a novel monoallelic missense variation in exon 7 of GHR (S219L). The proband’s mother had the same variation. S219L might be the novel mutation judging from there being no registration of it as a single-nucleotide polymorphism (SNP) in any database, evolutional conservation of Ser219, in silico analyses, and computational molecular visualization analysis. Furthermore, a review of the literature showed that the median height of missense mutation carriers of GHR was relatively low. Conclusions We propose the possibility that monoallelic mutation of GHR increases the susceptibility to short stature.

scholarly journals Branding of subjects affected with genetic syndromes of severe short stature in developing countries

2020 ◽  
Vol 13 (2) ◽  
pp. e231737 ◽  
Author(s):  
Jaime Guevara-Aguirre ◽  
Carolina Guevara ◽  
Alexandra Guevara ◽  
Antonio AWD Gavilanes
Keyword(s):  
Developing Countries ◽  
Mental Retardation ◽  
Medical Care ◽  
Short Stature ◽  
South American ◽  
Genetic Syndromes ◽  
Laron Syndrome ◽  
South American Country ◽  
Genetic Syndrome ◽  
Severe Short Stature

In Ecuador, a developing South American country, subjects affected with genetic syndromes of severe short stature are commonly referred to as dwarfs or midgets. Furthermore, and because in earlier studies some patients had evidenced mental retardation, such abnormality is assumed to exist in all affected subjects. Herein, we present two discrete instances in which this type of branding occurs. The first is that of individuals with Laron syndrome who are still called ‘dwarfs’ and considered as having a degree of mental retardation despite evidence showing otherwise. A similar problem, that of a girl affected with a genetic syndrome of short stature, which might include mental retardation, is also discussed. Considering that stigmatising is a form of discrimination, it concerns us all. Hence, the use of derogatory terms such as midget, dwarf or cretin, that might unintentionally occur even when delivering the best and most devoted medical care, must be eliminated.

Severe short stature, hyperphalangy of the index fingers, mental retardation and facial dysmorphism

2000 ◽  
Vol 9 (2) ◽  
pp. 111-114 ◽  
Author(s):  
K. Devriendt ◽  
K. Keymolen ◽  
L. Roelen ◽  
G. Van Goethem ◽  
J. Meireleire ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Short Stature ◽  
Facial Dysmorphism ◽  
Severe Short Stature

Growth hormone therapy in a child with severe short stature due to Miller-McKusick-Malvaux (3M) syndrome-2

2019 ◽  
Author(s):  
Sumudu Seneviratne ◽  
Deepthi de Silva ◽  
Emily Cottrell ◽  
Piumi Kuruppu ◽  
KSH de Silva ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Hormone Therapy ◽  
Short Stature ◽  
Growth Hormone Therapy ◽  
Severe Short Stature

scholarly journals Mutations of uncertain significance in heterozygous variants as a possible cause of severe short stature: a case report

2020 ◽  
Vol 7 (1) ◽  
Author(s):  
Nami Mohammadian Khonsari ◽  
Sahar Mohammad Poor Nami ◽  
Benyamin Hakak-Zargar ◽  
Tessa Voth
Keyword(s):  
Growth Hormone ◽  
Short Stature ◽  
Hormone Receptors ◽  
Bone Growth ◽  
Synergistic Effects ◽  
Signs And Symptoms ◽  
Bone Age ◽  
Pathogenic Mutation ◽  
Paracrine Factors ◽  
Severe Short Stature

Abstract Background Linear bone growth is achieved by the division of chondrocytes at the growth plate and is regulated by endocrine and paracrine factors such as growth hormone. Mutations that negatively affect chondrogenesis can be a contributor to short stature. One such mutation can occur in the ACAN gene, causing short stature and advanced bone age. Similarly, mutations in growth hormone receptors (GHR) can lead to Laron syndrome (LS), one of the several disorders that are collectively called growth hormone insensitivity syndrome (GHI). Another example is Floating-Harbor syndrome (FHS), a rare autosomal dominant due to mutations in the SRCAP gene that can also result in short stature. Case presentation We report the case of a 6-year-old female with concomitant mutations in the three genes mentioned above. The mutations reported here were found on genetic studies and are usually benign, causing a variant of undetermined significance. However, our patient’s phenotype could only be explained by the compounded effects of pathogenic mutations of these genes. Some of the same mutations were also found in the patient’s father and her paternal grandfather. Both also presented with short stature, though not to the same degree as our patient. While these mutations are often reported to be insignificant, they gave rise to severe short stature and a specific phenotype in the patient when presented together. We think that even though the GHI spectrum is inherited through an autosomal recessive pattern, the sum of these heterozygous mutations resulted in severe short stature despite the limited GHI seen in our patient, the father, and the grandfather, through a rare ACAN and SRCAP mutation that, to our knowledge, has not been previously reported as a pathogenic mutation in the literature. Conclusion We investigated the possible synergistic effects of these variations on exacerbation or masking of the signs and symptoms of GHI with the hope of providing a better understanding of these genes and their function through our rare case.

Report of two brothers with short stature, microcephaly, mental retardation, and retinoschisis-A new mental retardation syndrome?

2010 ◽  
Vol 155 (1) ◽  
pp. 9-13 ◽  
Author(s):  
Shubha R. Phadke ◽  
Sheetal Sharda ◽  
Jill Urquhart ◽  
Emma Jenkinson ◽  
Shobhit Chawala ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Short Stature

scholarly journals Potential oligogenic disease of mental retardation, short stature, spastic paraparesis and osteopetrosis

2018 ◽  
Vol Volume 11 ◽  
pp. 129-134
Author(s):  
Abdulaziz Alsemari ◽  
Mohanned Alsuhaibani ◽  
Rawabi Alhathlool ◽  
Bayan Mamdouh Ali
Keyword(s):  
Mental Retardation ◽  
Short Stature ◽  
Spastic Paraparesis
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