Gene mutation and clinical analysis of nephronophthisis diagnosed using whole exome sequencing: Experience from China

Tang, Xiaoshan; Xu, Hong; Shen, Qian; Li, Guoming; Rao, Jia; Chen, Jing; Zhai, Yi­hui; Miao, Qianfan

doi:10.5414/cn109571

Cited by 5 publications

(4 citation statements)

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“…There were 646 NPHP cases, 23 Joubert Syndrome cases, and nine Senior Loken cases. 125 NPHP cases, 13 Joubert syndrome cases, and all nine Senior Loken cases had ophthalmic abnormalities with a total of 147 cases overall with eye manifestations 9‐56 . Most common eye manifestations include retinal abnormalities ( n = 70) including retinitis pigmentosa and retinal dystrophies as well as nystagmus ( n = 19) and strabismus ( n = 14).…”

Section: Discussionmentioning

confidence: 99%

“…125 NPHP cases, 13 Joubert syndrome cases, and all nine Senior Loken cases had ophthalmic abnormalities with a total of 147 cases overall with eye manifestations. 9 , 10 , 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 , 47 , 48 , 49 , 50 , 51 , 52 , 53 , 54 , 55 , 56 Most common eye manifestations include retinal abnormalities ( n = 70) including retinitis pigmentosa and retinal dystrophies as well as nystagmus ( n = 19) and strabismus ( n = 14). Less commonly reported eye manifestations included palpebral fissure abnormalities ( n = 5), cataracts ( n = 3), epicanthal folds ( n = 2), telecanthus ( n = 1), and exophthalmos ( n = 1).…”

Section: Discussionmentioning

confidence: 99%

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NPHP1‐Related ciliopathies: A new case and major review of the ophthalmic manifestations of 147 reported cases

Reddy,

Simmers,

Shah

et al. 2023

Clinical Case Reports

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

NPHP1‐Related ciliopathies: A new case and major review of the ophthalmic manifestations of 147 reported cases

Reddy,

Simmers,

Shah

et al. 2023

Clinical Case Reports

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“…This method has been extensively applied for gene testing of inherited diseases including NPHP. Recently, Tang X et al analyzed gene mutation and clinical manifestations of NPHP in Chinese population by using WES, and found the causative genetic variations in these patients [16]. Also, targeted exome sequencing (TES) was used to detect the causative mutation of NPHP patients.…”

Section: Discussionmentioning

confidence: 99%

A case report of NPHP1 deletion in Chinese twins with nephronophthisis

et al. 2020

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Background: Nephronophthisis (NPHP) is a rare autosomal recessive inherited disorder with high heterogeneity. The majority of NPHP patients progress to end-stage renal disease (ESRD) within the first three decades of life. As an inherited disorder with highly genetic heterogeneity and clinical presentations, NPHP still poses a challenging task for nephrologists without special training to make a well-judged decision on its precise diagnosis, let alone its mechanism and optimal therapy. Case presentation: A Chinese family with NPHP was recruited in current study. The clinical characteristics (including findings from renal biopsy) of NPHP patients were collected from medical records and the potential responsible genes were explored by the whole exome sequencing (WES). A homozygous deletion of NPHP1 (1-20 exons) was found in both affected patients, which was further confirmed by quantitative PCR. Conclusions: Homozygous full gene deletion of the NPHP1 gene was identified in a Chinese family with NPHP, which was the molecular pathogenic basis of this disorder. Furthermore, identification of the pathogenic genes for those affected patients can help to have a full knowledge on NPHP's molecular mechanism and precise treatment.

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“…10 WES in CKD has been instrumental in identifying mutations in heterogeneous CKD cohorts and in known clinical groups (e.g., nephronophthisis and medullary cystic kidney disease), as shown in Table 3. [44][45][46][47][48][49] A pilot study assessed the diagnostic utility of WES in a selected referral population of 92 adults with CKD of unknown cause, familial nephropathy, or hypertension. 45 WES provided a diagnosis encompassing 13 distinct genetic disorders in 24% of these patients, 9 of whom were probands with an unknown cause of CKD.…”

Section: Whole Exome Sequencing (Wes) In Ckdmentioning

confidence: 99%