Abstract |
We describe two patients with Pallister-Hall syndrome (PHS) with genital abnormalities: a female with hydrometrocolpos secondary to vaginal atresia and a male with micropenis, hypoplastic scrotum, and bilateral cryptorchidism. Nonsense mutations in GLI3 were identified in both patients. Clinical and molecular findings of 12 previously reported patients who had GLI3 mutations and genital abnormalities were reviewed. Genital features in the male patients included hypospadias, micropenis, and bifid or hypoplastic scrotum, whereas all the females had hydrometrocolpos and/or vaginal atresia. No hotspot for GLI3 mutations has been found. The urogenital and anorectal abnormalities associated with PHS might be related to dysregulation of SHH signaling caused by GLI3 mutations rather than hormonal aberrations. We recommend that clinical investigations of genital abnormalities are considered in patients with PHS, even those without hypopituitarism.
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Authors | Yoko Narumi, Tomoki Kosho, Goro Tsuruta, Masaaki Shiohara, Ei Shimazaki, Tetsuo Mori, Ayako Shimizu, Yasuhiko Igawa, Shuji Nishizawa, Kimiyo Takagi, Rie Kawamura, Keiko Wakui, Yoshimitsu Fukushima |
Journal | American journal of medical genetics. Part A
(Am J Med Genet A)
Vol. 152A
Issue 12
Pg. 3143-7
(Dec 2010)
ISSN: 1552-4833 [Electronic] United States |
PMID | 21108399
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't, Review)
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Copyright | © 2010 Wiley-Liss, Inc. |
Chemical References |
- Codon, Nonsense
- GLI3 protein, human
- Kruppel-Like Transcription Factors
- Nerve Tissue Proteins
- Zinc Finger Protein Gli3
- DNA
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Topics |
- Abnormalities, Multiple
(genetics)
- Child
- Child, Preschool
- Codon, Nonsense
- DNA
(genetics, isolation & purification)
- Exons
- Female
- Frameshift Mutation
- Genes, Dominant
- Heterozygote
- Humans
- Kruppel-Like Transcription Factors
(genetics)
- Male
- Nerve Tissue Proteins
(genetics)
- Nucleic Acid Amplification Techniques
- Pallister-Hall Syndrome
(diagnosis)
- Polymerase Chain Reaction
- Urogenital Abnormalities
(diagnosis, genetics)
- Zinc Finger Protein Gli3
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