Pili Torti as Marker for Carriers of Menkes Disease

Collie, William R.; Moore, Charleen M.; Goka, Thomas J.; Howell, R. Rodney

doi:10.1016/s0140-6736(78)91051-6

Cited by 27 publications

(5 citation statements)

References 8 publications

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“…Female heterozygotes may exhibit mild PT on close inspection. 200 MS is caused by a defective copper export from cells with normal copper absorption into cells. The Menkes gene (MNK) has been mapped to Xq13.3 [201][202][203] and encodes ATP7A, a P-type cation transporting ATPase localized to the plasma membrane and the trans-Golgi network (TGN).…”

Section: Trichorrhexis Invaginatamentioning

confidence: 99%

The genetics of hair shaft disorders

Cheng

Bayliss

2008

Journal of the American Academy of Dermatology

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Section: Trichorrhexis Invaginatamentioning

confidence: 99%

The genetics of hair shaft disorders

Cheng

Bayliss

2008

Journal of the American Academy of Dermatology

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“…In order to prevent the birth of affected males, identification of female carriers becomes important. Heterozygous females may show phenotypic signs such as hypopigmented areas of the skin (10), and mild hair changes (11), but the majority of female carriers show no obvious clinical manifestation of MD. Carrier diagnosis by measuring 64 Cu uptake in cultured fibroblasts is possible.…”

mentioning

confidence: 99%

X‐linked recessive Menkes disease: carrier detection in the case of a partial gene deletion

2002

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X-linked recessive Menkes disease is a lethal disorder of copper metabolism, caused by defects in the ATP7A gene. About 15% of the mutations causing Menkes disease are partial gene deletions. We have previously demonstrated carrier diagnosis of deletions in heterozygotes by Southern blot analysis. As this technique is very time-consuming alternative methods are obviously of high value. Multiplex polymerase chain reaction (PCR), reverse transcription PCR (RT-PCR) and spanning the deletion on genomic DNA can all be used for detection of partial gene deletions in male patients, but only spanning of the deletion can be applied for carrier detection. Simple multiplex PCR is not applicable for carrier detection because the normal allele of ATP7A will be PCR amplified thus masking the deletion. Here, we demonstrate, in addition to spanning of the deletion on genomic DNA, carrier detection based on the use of a previously unrecognized polymorphism in intron 13 of ATP7A in combination with previously identified intragenic polymorphic markers. We show that these intragenic markers can be used for carrier detection, not only indirectly by determining segregation of the disease related allele but also directly if located within the deleted region. We demonstrate determination of the carrier status of 21 at-risk carriers.

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“…All clinical forms of MD present pili torti in varying degrees [2-5]. The hair is normal at birth and is replaced around 3 months of age by short, brittle, light-colored kinky hair characteristic of pili torti [9]. The areas of the scalp subject to friction are more affected, as was noted in our patient on the occipital region.…”

Section: Discussion/conclusionmentioning

confidence: 64%

Usefulness of Trichoscopy over Hair Light Microscopy in Menkes Disease

Sáez‐de‐Ocariz¹,

Aguilar-Sarmiento²,

Garcés-Abad³

et al. 2021

Skin Appendage Disord

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Menkes disease (MD) is a rare X-linked recessive neurodegenerative disorder caused by mutations in the <i>ATP7A</i> gene, with a high mortality rate within the first 3 years of life. It typically affects males and is characterized by impaired copper distribution and malfunction of several copper-dependent enzymes. Patients develop progressive muscle hypotonia associated with neurological damage and hair shaft dysplasia – particularly pili torti. Pili torti is usually very subtle in the first 3 months of life and gradually increases during the first year. Light microscopy examination in search for pili torti requires the observation of more than 50 hair shafts. In contrast, trichoscopy with a hand-held dermatoscope allows to easily identify the hair shaft defect. We report a case of a Hispanic male infant with MD in whom we show that trichoscopy is superior to hair light microscopy in revealing pili torti.

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Pili Torti as Marker for Carriers of Menkes Disease

Cited by 27 publications

References 8 publications

The genetics of hair shaft disorders

The genetics of hair shaft disorders

X‐linked recessive Menkes disease: carrier detection in the case of a partial gene deletion

Usefulness of Trichoscopy over Hair Light Microscopy in Menkes Disease

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