title: Lenz-Majewski syndrome: Report of a case with novel mutation in PTDSS1 gene.
abstract: Lenz-Majewski syndrome (LMS) is an extremely rare syndrome characterized by osteosclerosis, intellectual disability, characteristic facies and distinct craniofacial, dental, cutaneous and distal - limb anomalies. Recently, mutations in PTDSS1 gene have been identified as causative in six unrelated individuals. We report the seventh mutation proven case of LMS and provide a concise review of all known patients till date.
authors.affiliation: Genetic Research Center, National Institute for Research in Reproductive Health, JM Street, Parel, Mumbai, India. Electronic address: paragtmd@gmail.com.
authors.forename: Parag M
authors.initials: PM
authors.lastname: Tamhankar
authors.affiliation: Genetic Research Center, National Institute for Research in Reproductive Health, JM Street, Parel, Mumbai, India.
authors.forename: Lakshmi
authors.initials: L
authors.lastname: Vasudevan
authors.affiliation: Nowrosjee Wadia Maternity Hospital, Parel, Mumbai, India.
authors.forename: Vandana
authors.initials: V
authors.lastname: Bansal
authors.affiliation: Genetic Research Center, National Institute for Research in Reproductive Health, JM Street, Parel, Mumbai, India.
authors.forename: Shyla R
authors.initials: SR
authors.lastname: Menon
authors.affiliation: Genetic Research Center, National Institute for Research in Reproductive Health, JM Street, Parel, Mumbai, India.
authors.forename: Harshavardhan M
authors.initials: HM
authors.lastname: Gawde
authors.affiliation: Genetic Research Center, National Institute for Research in Reproductive Health, JM Street, Parel, Mumbai, India.
authors.forename: Aruna
authors.initials: A
authors.lastname: D'Souza
authors.affiliation: Genetic Research Center, National Institute for Research in Reproductive Health, JM Street, Parel, Mumbai, India.
authors.forename: Shiny
authors.initials: S
authors.lastname: Babu
authors.affiliation: Genetic Research Center, National Institute for Research in Reproductive Health, JM Street, Parel, Mumbai, India.
authors.forename: Shweta
authors.initials: S
authors.lastname: Kondurkar
authors.affiliation: Genetic Research Center, National Institute for Research in Reproductive Health, JM Street, Parel, Mumbai, India.
authors.forename: Rashmi
authors.initials: R
authors.lastname: Adhia
authors.affiliation: Genetic Research Center, National Institute for Research in Reproductive Health, JM Street, Parel, Mumbai, India.
authors.forename: Dhanjit Kumar
authors.initials: DK
authors.lastname: Das
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D001483:Base Sequence; D001848:Bone Diseases, Developmental / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D002675:Child, Preschool; D005091:Exons; D019066:Facies; D015870:Gene Expression; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D019884:Nitrogenous Group Transferases / Q000235:genetics*; D011859:Radiography
chemical_list: D019884:Nitrogenous Group Transferases; C022370:phospholipid serine base exchange enzyme
keywords: Lenz-Majewski syndrome; PTDSS1