PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome

Article Abstract:

A study stated that Congenital Central Hypoventilation Syndrome (CCHS) is a rare disorder characterized by abnormal ventilatory response of hypoxia and hypercapnia associated with other autonomic nervous system dysfunctions. The research concluded that PHOX2B is confirmed as the major gene in CCHS pathogenesis and autosomal dominant inheritance with reduced penetrance.

Diagnosis, Hypoxia, Anoxia, Respiratory distress syndrome, Hypoventilation

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Genotype-phenotype correlations in Peutz-Jeghers syndrome

Article Abstract:

Reviews founded that the inherited disorders of Peutz-Jeghers Syndrome (PJS) were characterized by gastrointestinal (GI) harmartomatus polyps and mucocutaneous pigmentation. Alternatively, mutations in genes other than STK11 may cause a severe form of PJS for individuals with truncating mutations.

Genetic disorders

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Will the real Cowden syndrome please stand up (again)? expanding mutational and clinical spectra of the PTEN hamartoma tumour syndrome

Article Abstract:

Cowden syndrome is a complex disorder with malignant and benign lesions affecting derivatives of the three germ cell layers. Studies have shown that Cowden syndrome since 1995, are responsible for an increasing spectrum of clinical disorders.

Germ cells

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