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Al-Gazali Skeletal ...
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Batkovskyte, D.Karolinska Institutet
(author)
Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders
- Article/chapterEnglish2023
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LIBRIS-ID:oai:gup.ub.gu.se/326293
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https://gup.ub.gu.se/publication/326293URI
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https://doi.org/10.1002/jbmr.4799DOI
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http://kipublications.ki.se/Default.aspx?queryparsed=id:152339878URI
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Subject category:ref swepub-contenttype
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Subject category:art swepub-publicationtype
Notes
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Lethal short-limb skeletal dysplasia Al-Gazali type (OMIM %601356), also called dysplastic cortical hyperostosis, Al-Gazali type, is an ultra-rare disorder previously reported in only three unrelated individuals. The genetic etiology for Al-Gazali skeletal dysplasia has up until now been unknown. Through international collaborative efforts involving seven clinical centers worldwide, a cohort of nine patients with clinical and radiographic features consistent with short-limb skeletal dysplasia Al-Gazali type was collected. The affected individuals presented with moderate intrauterine growth restriction, relative macrocephaly, hypertrichosis, large anterior fontanelle, short neck, short and stiff limbs with small hands and feet, severe brachydactyly, and generalized bone sclerosis with mild platyspondyly. Biallelic disease-causing variants in ADAMTSL2 were detected using massively parallel sequencing (MPS) and Sanger sequencing techniques. Six individuals were compound heterozygous and one individual was homozygous for pathogenic variants in ADAMTSL2. In one of the families, pathogenic variants were detected in parental samples only. Overall, this study sheds light on the genetic cause of Al-Gazali skeletal dysplasia and identifies it as a semi-lethal part of the spectrum of ADAMTSL2-related disorders. Furthermore, we highlight the importance of meticulous analysis of the pseudogene region of ADAMTSL2 where disease-causing variants might be located.
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McKenzie, F.
(author)
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Taylan, F.Karolinska Institutet
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Simsek-Kiper, P. O.
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Nikkel, S. M.
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Ohashi, H.
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Stevenson, R. E.
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Ha, T.
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Cavalcanti, D. P.
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Miyahara, H.
(author)
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Chagin, Andrei S.,1976Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för invärtesmedicin och klinisk nutrition,Centre for Bone and Arthritis Research,Institute of Medicine, Department of Internal Medicine and Clinical Nutrition(Swepub:gu)xchaga
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Aguirre, M. A.
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Akcoeren, Z.
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Utine, G. E.Karolinska Institutet
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Chiu, T.
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Shimizu, K.
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Hammarsjoe, A.Karolinska Institutet
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Boduroglu, K.
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Moore, H. W.
(author)
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Louie, R. J.
(author)
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Arts, P.
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Nordgren, Ann,1964Karolinska Institutet(Swepub:gu)xnannb
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Babic, M.
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Jackson, M. R.
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Papadogiannakis, N.Karolinska Institutet
(author)
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Lindstrand, A.Karolinska Institutet
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Nordgren, Ann,1964
(author)
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Barnett, C. P.
(author)
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Scott, H. S.
(author)
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Chagin, Andrei S.,1976Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för invärtesmedicin och klinisk nutrition,Centre for Bone and Arthritis Research,Institute of Medicine, Department of Internal Medicine and Clinical Nutrition(Swepub:gu)xchaga
(author)
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Nishimura, G.
(author)
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Grigelioniene, G.
(author)
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Karolinska InstitutetInstitutionen för medicin, avdelningen för invärtesmedicin och klinisk nutrition
(creator_code:org_t)
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In:Journal of Bone and Mineral Research: Wiley38:5, s. 692-7060884-04311523-4681
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Batkovskyte, D.
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McKenzie, F.
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Taylan, F.
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Simsek-Kiper, P. ...
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Nikkel, S. M.
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Ohashi, H.
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Stevenson, R. E.
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Ha, T.
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Cavalcanti, D. P ...
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Miyahara, H.
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Chagin, Andrei S ...
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Aguirre, M. A.
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Akcoeren, Z.
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Utine, G. E.
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Chiu, T.
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Shimizu, K.
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Hammarsjoe, A.
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Boduroglu, K.
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Moore, H. W.
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Louie, R. J.
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Arts, P.
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Nordgren, Ann, 1 ...
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Babic, M.
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Jackson, M. R.
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Papadogiannakis, ...
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Lindstrand, A.
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Barnett, C. P.
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Scott, H. S.
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Nishimura, G.
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Grigelioniene, G ...
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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Journal of Bone ...
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University of Gothenburg
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Karolinska Institutet