Literature DB >> 7677154

Variable penetrance of hypogonadism in a sibship with Kallmann syndrome due to a deletion of the KAL gene.

G Parenti1, M G Rizzolo, M Ghezzi, S Di Maio, M P Sperandeo, B Incerti, B Franco, A Ballabio, G Andria.   

Abstract

We report on the clinical and molecular characterization of 3 sibs with X-linked ichthyosis and variable expression of Kallmann syndrome. One of the affected brothers had mild hyposmia and showed normal pubertal progression. However, we demonstrated the same partial deletion of the X-linked Kallmann gene, sparing the first exon in the mildly affected patient as well as in one of his severely affected brothers.

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Year:  1995        PMID： 7677154     DOI： 10.1002/ajmg.1320570323

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  9 in total

1.  Identification of two novel missense mutations in the KAL1 gene in Han Chinese subjects with Kallmann Syndrome.

Authors:  T-S Jap; C-Y Chiu; J-F Lirng; G-S Won
Journal:  J Endocrinol Invest       Date:  2010-06-04       Impact factor: 4.256

2.  Olfactory phenotypic spectrum in idiopathic hypogonadotropic hypogonadism: pathophysiological and genetic implications.

Authors:  Hilana M Lewkowitz-Shpuntoff; Virginia A Hughes; Lacey Plummer; Margaret G Au; Richard L Doty; Stephanie B Seminara; Yee-Ming Chan; Nelly Pitteloud; William F Crowley; Ravikumar Balasubramanian
Journal:  J Clin Endocrinol Metab       Date:  2011-11-09       Impact factor: 5.958

Review 3.  Role of fibroblast growth factor (FGF) signaling in the neuroendocrine control of human reproduction.

Authors:  Hichem Miraoui; Andrew Dwyer; Nelly Pitteloud
Journal:  Mol Cell Endocrinol       Date:  2011-06-01       Impact factor: 4.102

4.  Prevalence and Phenotypic Effects of Copy Number Variants in Isolated Hypogonadotropic Hypogonadism.

Authors:  Maria I Stamou; Harrison Brand; Mei Wang; Isaac Wong; Margaret F Lippincott; Lacey Plummer; William F Crowley; Michael Talkowski; Stephanie Seminara; Ravikumar Balasubramanian
Journal:  J Clin Endocrinol Metab       Date:  2022-07-14       Impact factor: 6.134

5.  Molecular analysis of KAL-1 in a series of Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism patients from Northwestern China.

Authors:  Kai-Fa Tang; Qi-Fei Wu; Tie-Jun Zou; Wei Xue; Xin-Yang Wang; Jun-Ping Xing
Journal:  Asian J Androl       Date:  2009-09-07       Impact factor: 3.285

Review 6.  Linear Skin Defects with Multiple Congenital Anomalies (LSDMCA): An Unconventional Mitochondrial Disorder.

Authors:  Alessia Indrieri; Brunella Franco
Journal:  Genes (Basel)       Date:  2021-02-11       Impact factor: 4.096

7.  Kallmann Syndrome and X-linked Ichthyosis Caused by Translocation Between Chromosomes X and Y: A Case Report.

Authors:  Haseena Sait; Priyanka Srivastava; Preeti Dabadghao; Shubha R Phadke
Journal:  J Reprod Infertil       Date:  2021 Oct-Dec

8.  Whole exome sequencing and trio analysis to broaden the variant spectrum of genes in idiopathic hypogonadotropic hypogonadism.

Authors:  Jian Zhang; Shu-Yan Tang; Xiao-Bin Zhu; Peng Li; Jian-Qi Lu; Jiang-Shan Cong; Ling-Bo Wang; Feng Zhang; Zheng Li
Journal:  Asian J Androl       Date:  2021 May-Jun       Impact factor: 3.285

Review 9.  A comprehensive review of genetics and genetic testing in azoospermia.

Authors:  Alaa J Hamada; Sandro C Esteves; Ashok Agarwal
Journal:  Clinics (Sao Paulo)       Date:  2013       Impact factor: 2.365
  9 in total

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